exudates and Anemia--Sickle-Cell

Sickle cell disease (SCD) is an inherited red cell disorder, characterized by the tendency of haemoglobin S or sickle haemoglobin to polymerize and assume a characteristic sickle shape. Molecular analysis has been the mainstay of detection method when confirmation is required. Previously a polymerase chain reaction (PCR)-based restriction enzyme analysis was used for this purpose. A simple bidirectional allele-specific amplification, recently described by Waterfall in 2001 was used to detect the GAG --> GTG mutation on codon 6 of the beta globin gene. Two sets of primers for the mutant and the wild type alleles were used in a single PCR reaction to amplify the regions of interest. The resultant PCR products will produce two fragments at 517 and 267 base pair (bp) respectively. This report highlights the investigations for SCD in the family of a 16-year old girl with recurrent painful crisis affecting the lower limbs whereby the family members are asymptomatic for the disease. Her haemoglobin electrophoresis at an alkaline pH showed dense bands at the HbS and HbF regions, while her father and two sisters had bands at HbS, HbF and HbA. The PCR analysis showed that she was homozygous for the mutation by the presence of only one band at 267 bp fragment, while the father and her sisters were heterozygotes, with the presence of two bands at 267 as well as 517 bp fragments. DNA sequencing of the sample confirmed the mutation. In conclusion, this case report highlighted the simple and cheap yet practical method for molecular confirmation of the presence of HbS gene in subjects with homozygous or heterozygous state of the condition.

Topics: Adolescent; Anemia, Sickle Cell; Base Sequence; Fathers; Female; Hemoglobin, Sickle; Heterozygote; Homozygote; Humans; Malaysia; Male; Mutation; Nucleic Acid Amplification Techniques; Pedigree; Polymerase Chain Reaction; Siblings

Clinical studies were carried out on mild Indian sickle cell anaemia in Malaysia, and genetic and fertility studies were carried out on 101 families with and without sickle-cell haemoglobin (Hb S). The Indian sickle cell anaemia patients reached adulthood, and pregnancies and deliveries were uneventful without blood transfusion. There was no foetal wastage and the number of children produced was not significantly different from that in families without Hb S. 28 Indian patients hospitalized with Plasmodium falciparum malaria infection were also examined for their beta S genotype. P. falciparum malaria infection occurred much more frequently in individuals without Hb S than in Hb S carriers.

Topics: Adolescent; Adult; Anemia, Sickle Cell; Animals; Bilirubin; Child; Child, Preschool; Female; Fertility; Genotype; Globins; Hemoglobin, Sickle; Humans; India; Infant; Kidney Concentrating Ability; Malaria; Malaysia; Male; Middle Aged; Physical Exertion; Plasmodium falciparum

The Indian rubber estate workers in Negri Sembilan, Malaysia, who originated from Orissa in India were found to have a high frequency of Hb S (Joishy SK, Hassan K: Clin Res 28:280, 1980). Unlike the usually severe clinical picture of sickle cell anemia seen in African and American blacks, the clinical picture of the disease in this population was mild and many have reached old age. We studied the leukocyte DNA of 12 patients with sickle cell anemia, ranging in age from 4 to 61 years and 30 sickle cell trait carriers, ranging in age from 7 to 63 years, for the presence of alpha-globin gene deletions by gene mapping according to Southern (Southern EM: J Mol Biol 98:503, 1975), using alpha- and zeta-globin gene probes obtained by nick translation of the alpha- and zeta-globin genes cloned into plasmid. All 12 sickle cell anemia patients were found to have alpha-thalassemia2 (alpha-thal2), either in the homozygous or heterozygous condition. Of the Hb S trait carriers, six did not have alpha-thal2 or alpha-thal1 and 24 had alpha-thal2 (15 heterozygous, 9 homozygous). Seven of these Hb S trait carriers with alpha-thal2 had an additional gene abnormality. Five of them had a fast-moving Eco RI fragment 5.6 kb long that hybridized with zeta-specific probe but not with alpha-specific probe. An unusual DNA pattern of a different type was further found in the other two. Bgl II restriction analysis showed that the alpha-thal2 was mostly of the rightward deletion alpha-thal1 genotype. None of the sickle cell anemia patients and Hb S trait carriers had deletion type alpha-thal1. The sickle cell anemia patients had very high levels of Hb F and low levels of Hb A2. The Hb S trait carriers with alpha-thal2 had relatively low levels of Hb S.

Topics: Adolescent; Adult; Anemia, Sickle Cell; Child; Child, Preschool; Erythrocyte Indices; Female; Fetal Hemoglobin; Hemoglobin, Sickle; Hemoglobins; Heterozygote; Homozygote; Humans; India; Malaysia; Male; Middle Aged; Sickle Cell Trait; Thalassemia; White People

Four cases of Hb S were seen between Jan. 1976 and June 1976; three of them were newly discovered while the fourth was previously diagnosed. Out of the four cases, two were Malays and the other Indians. The family members of one Malay case were investigated. Six members had Hb S and three had Hb CoSp. Association of Hb CoSp and Hb S was seen in two of the members. Clinically they were healthy.

Topics: Adult; Anemia, Sickle Cell; Child; Female; Hemoglobin, Sickle; Humans; India; Malaysia; Male; Middle Aged; Sickle Cell Trait

Topics: Adult; Aging; Ampicillin; Anaphylaxis; Anemia, Hemolytic; Anemia, Sickle Cell; Drug Eruptions; Drug Hypersensitivity; Epinephrine; Humans; Malaysia; Male; Nephritis, Interstitial; Penicillins; Skin Tests

The particular agricultural adaptation we have been considering is the ultimate determinant of the presence of malaria parasites in the intracellular environment of the human red blood cell. This change in the cellular environment is deleterious for normal individuals, but individuals with the sickle-cell gene are capable of changing their red-cell environment so that intense parasitism never develops. Normal individuals suffer higher mortality rates and lower fertility rates in a malarious environment than individuals with the sickle-cell trait do, so the latter contribute proportionately more people to succeeding generations.

Topics: Africa, Eastern; Africa, Western; Agriculture; Anemia, Sickle Cell; Anopheles; Computers; Environment; Genetics, Population; Humans; Insect Vectors; Malaria; Malaysia; Models, Theoretical; Tropical Climate

Topics: Anemia, Sickle Cell; Child; Child, Preschool; Ethnology; Humans; Malaysia

Topics: Anemia; Anemia, Sickle Cell; Asian People; Erythrocytes, Abnormal; Humans; Malaysia